Canonical Allele Identifier: CA229433
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102592
ClinVar RCV Id: RCV000088831 RCV000251588 RCV001199990
dbSNP Id: rs62509021
ExAC: 12:103233031 G / A
gnomAD v2: 12-103233031-G-A
gnomAD v3: 12-102839253-G-A
gnomAD v4: 12-102839253-G-A
MyVariant Identifiers: chr12:g.103233031G>A (hg19) chr12:g.102839253G>A (hg38)
ERepo: CA229433/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102839253G>A , CM000674.2:g.102839253G>A GRCh38
NC_000012.11:g.103233031G>A , CM000674.1:g.103233031G>A GRCh37
NC_000012.10:g.101757161G>A NCBI36
NG_008690.1:g.83350C>T
NG_008690.2:g.124158C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1316-35C>T MANE Select ENSP00000448059.1:n.1316-35C>T
ENST00000307000.7:c.1301-35C>T ENSP00000303500.2:n.1301-35C>T
ENST00000551114.2:n.978-35C>T
ENST00000553106.5:c.1316-35C>T ENSP00000448059.1:n.1316-35C>T
ENST00000635477.1:c.420-35C>T
ENST00000635528.1:n.831-35C>T
NM_000277.1:c.1316-35C>T NP_000268.1:n.1316-35C>T
XM_011538422.1:c.1259-35C>T XP_011536724.1:n.1259-35C>T
NM_000277.2:c.1316-35C>T NP_000268.1:n.1316-35C>T
NM_001354304.1:c.1316-35C>T NP_001341233.1:n.1316-35C>T
NM_000277.3:c.1316-35C>T MANE Select NP_000268.1:n.1316-35C>T
NM_001354304.2:c.1316-35C>T NP_001341233.1:n.1316-35C>T
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